Incidental Mutation 'R5611:Adam34'
| ID |
438031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34
|
| Ensembl Gene |
ENSMUSG00000079058 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 |
| Synonyms |
testase 4 |
| MMRRC Submission |
043273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5611 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44104749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 299
(F299I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110411]
[ENSMUST00000212185]
|
| AlphaFold |
A2RSG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110411
AA Change: F299I
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: F299I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
40 |
159 |
5.9e-20 |
PFAM |
|
Pfam:Reprolysin_5
|
205 |
377 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
205 |
393 |
3e-12 |
PFAM |
|
Pfam:Reprolysin
|
207 |
397 |
9.4e-49 |
PFAM |
|
Pfam:Reprolysin_2
|
224 |
389 |
1e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
231 |
352 |
2.7e-14 |
PFAM |
|
DISIN
|
416 |
491 |
3.38e-40 |
SMART |
|
ACR
|
492 |
628 |
9.18e-62 |
SMART |
|
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212185
AA Change: F299I
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
C |
11: 48,910,828 (GRCm39) |
T535R |
possibly damaging |
Het |
| Adamts20 |
A |
G |
15: 94,171,161 (GRCm39) |
M1854T |
possibly damaging |
Het |
| Adrm1b |
G |
A |
3: 92,335,758 (GRCm39) |
P315S |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,208,690 (GRCm39) |
V581A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,935,240 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
T |
C |
18: 61,640,334 (GRCm39) |
T242A |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,534,598 (GRCm39) |
V265A |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,414,954 (GRCm39) |
R556* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,360 (GRCm39) |
I101T |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,577,575 (GRCm39) |
|
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,181,542 (GRCm39) |
H206R |
probably damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,082 (GRCm39) |
G207D |
possibly damaging |
Het |
| Chrd |
A |
T |
16: 20,557,724 (GRCm39) |
D774V |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,825,503 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,987,942 (GRCm39) |
V704I |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,945,569 (GRCm39) |
Q312H |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,041,860 (GRCm39) |
T154S |
probably damaging |
Het |
| Foxi2 |
T |
C |
7: 135,013,433 (GRCm39) |
V221A |
probably benign |
Het |
| Gabbr2 |
A |
T |
4: 46,804,105 (GRCm39) |
I250N |
probably damaging |
Het |
| Gfap |
T |
A |
11: 102,787,895 (GRCm39) |
T17S |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,230,596 (GRCm39) |
V64A |
probably damaging |
Het |
| Igkv4-86 |
A |
G |
6: 68,887,659 (GRCm39) |
S27P |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,996,150 (GRCm39) |
F903L |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,745,304 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,219 (GRCm39) |
T656A |
probably benign |
Het |
| Mss51 |
G |
T |
14: 20,533,174 (GRCm39) |
S432R |
possibly damaging |
Het |
| Mzf1 |
A |
G |
7: 12,778,554 (GRCm39) |
|
probably benign |
Het |
| Nop58 |
T |
A |
1: 59,749,672 (GRCm39) |
|
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,062,975 (GRCm39) |
I77F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,622,630 (GRCm39) |
E1652G |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,295,247 (GRCm39) |
N1459K |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,969,673 (GRCm39) |
G61D |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,203,065 (GRCm39) |
S581P |
probably benign |
Het |
| Ppm1g |
A |
G |
5: 31,363,441 (GRCm39) |
F256L |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,386,296 (GRCm39) |
N726S |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,448 (GRCm39) |
D480G |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,244,663 (GRCm39) |
Q772* |
probably null |
Het |
| Sh3gl2 |
T |
C |
4: 85,273,568 (GRCm39) |
V40A |
probably benign |
Het |
| Slc22a23 |
G |
A |
13: 34,489,222 (GRCm39) |
T221I |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,040,698 (GRCm39) |
T518S |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,711,173 (GRCm39) |
|
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,555,409 (GRCm39) |
D207G |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,421,725 (GRCm39) |
T609S |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Tle4 |
T |
C |
19: 14,427,159 (GRCm39) |
D754G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,562,869 (GRCm39) |
W26949* |
probably null |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,743 (GRCm39) |
S157A |
probably damaging |
Het |
| Vmn1r51 |
T |
A |
6: 90,106,692 (GRCm39) |
L203M |
probably benign |
Het |
| Vmn1r6 |
T |
C |
6: 56,979,362 (GRCm39) |
L8P |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,904 (GRCm39) |
D232G |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,030 (GRCm39) |
D300E |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,654,951 (GRCm39) |
K453* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,261,130 (GRCm39) |
N599S |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,568,348 (GRCm39) |
N1214Y |
probably benign |
Het |
| Zc3h18 |
T |
G |
8: 123,135,109 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
A |
G |
17: 21,684,354 (GRCm39) |
E323G |
probably damaging |
Het |
|
| Other mutations in Adam34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00545:Adam34
|
APN |
8 |
44,105,227 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01296:Adam34
|
APN |
8 |
44,104,178 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01369:Adam34
|
APN |
8 |
44,104,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01933:Adam34
|
APN |
8 |
44,104,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Adam34
|
APN |
8 |
44,104,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Adam34
|
APN |
8 |
44,104,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02182:Adam34
|
APN |
8 |
44,104,790 (GRCm39) |
missense |
probably benign |
|
|
IGL02306:Adam34
|
APN |
8 |
44,103,522 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02661:Adam34
|
APN |
8 |
44,104,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02888:Adam34
|
APN |
8 |
44,104,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02979:Adam34
|
APN |
8 |
44,104,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Adam34
|
APN |
8 |
44,103,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB010:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Adam34
|
UTSW |
8 |
44,104,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Adam34
|
UTSW |
8 |
44,128,920 (GRCm39) |
intron |
probably benign |
|
|
R0317:Adam34
|
UTSW |
8 |
44,105,288 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0322:Adam34
|
UTSW |
8 |
44,104,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0427:Adam34
|
UTSW |
8 |
44,105,493 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0593:Adam34
|
UTSW |
8 |
44,104,724 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0837:Adam34
|
UTSW |
8 |
44,104,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0927:Adam34
|
UTSW |
8 |
44,104,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Adam34
|
UTSW |
8 |
44,105,127 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1653:Adam34
|
UTSW |
8 |
44,103,682 (GRCm39) |
nonsense |
probably null |
|
|
R1826:Adam34
|
UTSW |
8 |
44,104,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Adam34
|
UTSW |
8 |
44,104,843 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1943:Adam34
|
UTSW |
8 |
44,104,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Adam34
|
UTSW |
8 |
44,103,864 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2147:Adam34
|
UTSW |
8 |
44,105,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2150:Adam34
|
UTSW |
8 |
44,105,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2206:Adam34
|
UTSW |
8 |
44,105,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2207:Adam34
|
UTSW |
8 |
44,105,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2268:Adam34
|
UTSW |
8 |
44,103,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2349:Adam34
|
UTSW |
8 |
44,105,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3983:Adam34
|
UTSW |
8 |
44,103,806 (GRCm39) |
missense |
probably benign |
|
|
R4158:Adam34
|
UTSW |
8 |
44,103,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Adam34
|
UTSW |
8 |
44,104,128 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5219:Adam34
|
UTSW |
8 |
44,104,461 (GRCm39) |
missense |
probably benign |
|
|
R5398:Adam34
|
UTSW |
8 |
44,104,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Adam34
|
UTSW |
8 |
44,105,067 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6115:Adam34
|
UTSW |
8 |
44,105,098 (GRCm39) |
missense |
probably benign |
|
|
R6319:Adam34
|
UTSW |
8 |
44,104,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6384:Adam34
|
UTSW |
8 |
44,103,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6706:Adam34
|
UTSW |
8 |
44,104,479 (GRCm39) |
nonsense |
probably null |
|
|
R6992:Adam34
|
UTSW |
8 |
44,105,642 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7032:Adam34
|
UTSW |
8 |
44,105,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Adam34
|
UTSW |
8 |
44,104,499 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7187:Adam34
|
UTSW |
8 |
44,105,565 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7223:Adam34
|
UTSW |
8 |
44,105,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7487:Adam34
|
UTSW |
8 |
44,104,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Adam34
|
UTSW |
8 |
44,104,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7789:Adam34
|
UTSW |
8 |
44,105,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Adam34
|
UTSW |
8 |
44,105,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7933:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Adam34
|
UTSW |
8 |
44,103,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8231:Adam34
|
UTSW |
8 |
44,104,659 (GRCm39) |
missense |
probably benign |
|
|
R8238:Adam34
|
UTSW |
8 |
44,103,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Adam34
|
UTSW |
8 |
44,104,646 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8339:Adam34
|
UTSW |
8 |
44,103,640 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8381:Adam34
|
UTSW |
8 |
44,104,847 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8670:Adam34
|
UTSW |
8 |
44,105,126 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8693:Adam34
|
UTSW |
8 |
44,104,641 (GRCm39) |
missense |
probably benign |
|
|
R8932:Adam34
|
UTSW |
8 |
44,105,192 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8936:Adam34
|
UTSW |
8 |
44,104,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8981:Adam34
|
UTSW |
8 |
44,103,840 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9040:Adam34
|
UTSW |
8 |
44,103,363 (GRCm39) |
unclassified |
probably benign |
|
|
R9105:Adam34
|
UTSW |
8 |
44,103,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Adam34
|
UTSW |
8 |
44,104,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9321:Adam34
|
UTSW |
8 |
44,105,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Adam34
|
UTSW |
8 |
44,104,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9644:Adam34
|
UTSW |
8 |
44,104,766 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTCCATCATGCATCATGC -3'
(R):5'- GTGGACGCATCACAGGTTTATTG -3'
Sequencing Primer
(F):5'- TGCATCATGCCCAAGTTATGAC -3'
(R):5'- CAAGATATGTTGCAAGTAGTCAATGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation